Gene Editing Could Treat Duchenne Muscular Dystrophy

Members of the UT Southwestern team whose research successfully halted progression of a form of muscular dystrophy in mice included (l-r) Dr. Chengzu Long, Dr. Eric Olson, Dr. Rhonda Bassel-Duby, Dr. Leonela Amoasii, John Shelton, and Alex Mireault.

Gene Editing stops Duchenne Muscular Dystrophy in its Tracks

Scientists have discovered that gene editing can stop Duchenne muscular dystrophy in its tracks.

A novel gene-editing technique can halt the progression of Duchenne muscular dystrophy (DMD) in juvenile mice. When we extrapolate from mice to humans, the gene editing procedure can actually stop DMD expression in our species too.

Normally, DMD is fatal. But now we finally have hope for its sufferers. DMD is the most devastating form of muscular dystrophy among young males. Progressively, the muscles start to degenerate and weaken until a boy is left the very shadow of the individual he was before the onset of the disease.

Mutations occur in the X-linked DMD gene and so the disease progresses in its relentless drive. This gene encodes the protein termed dystrophin. One boy among 3500 or 5000 gets afflicted with this cursed disease.

According to the CDC, this malady causes death by the time the patient reaches 30 years of age. While the genetic reason behind DMD is common knowledge, treatment is another matter.

This affliction breaks down the muscular fibres and replaces them with fibrous and fatty tissue. It is indeed a nasty piece of work and one wouldn’t wish it on one’s worst enemy.

The muscles gradually become lax and lifeless. The end is certain death through either heart muscle disease or cardiomyopathy. The novel gene-editing methodology seems to work in mice.

Whether it will work in human beings is another matter though. The gene therapy is different from other nostrums since it in fact wipes out DMD instead of just ameliorating or curing it.

Thus it is very revolutionary in its scope. Called CRISPR/Cas9, the genome editing technique rectifies the mutation in the germ lining of the mice. Thus muscular dystrophy is prevented from spreading its net in the body’s muscular system.

Gene-editing components were delivered to the mice tissue via AAV9. Those mice with DMD showed an increased production of dystrophin. Skeletal and heart muscles improved in these mice.

AAV9 is actually an infection. But it doesn’t cause any disease. Rather it is a gene editing technique for therapeutic purposes. It is almost like a molecule that is used as a target missile of sorts.

We are talking about nanotechnological medicine here. It seems the same method has to be used to fight viruses such as DMD as produced the disease in the first place. This is indeed a case of homeopathic healing on an advanced level.

"This study represents a very important translational application of genome editing of DMD mutations in young mice. It's a solid step toward a practical cure for DMD," said Dr. Rhonda Bassel-Duby, Professor of Molecular Biology and Co-Principal Investigator of a genomic editing project with Dr. Olson at the Wellstone Center.

"The recent groundbreaking discoveries from the Olson laboratory using genome editing to correct the genetic mutation that causes DMD have accelerated the race to find a cure for this deadly disease," said Dr. Pradeep Mammen, Associate Professor of Internal Medicine and Co-Director of the UTSW Wellstone Center.

"The challenge now lies before Wellstone Center researchers to translate these discoveries in the mouse model of DMD into a therapy for patients with DMD."